Phosphate as a signaling molecule and its sensing mechanism

T Michigami, M Kawai, M Yamazaki… - Physiological …, 2018 - journals.physiology.org
In mammals, phosphate balance is maintained by influx and efflux via the intestines,
kidneys, bone, and soft tissue, which involves multiple sodium/phosphate (Na+/Pi) …

The genetics of primary familial brain calcification: a literature review

SY Chen, CJ Ho, YT Lu, CH Lin, MY Lan… - International Journal of …, 2023 - mdpi.com
Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited
disorder characterized by bilateral calcification in the basal ganglia according to …

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

A Batla, XY Tai, L Schottlaender, R Erro, B Balint… - Parkinsonism & related …, 2017 - Elsevier
Introduction There are now a number genes, known to be associated with familial primary
brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are …

Roles of phosphate in skeleton

T Michigami, K Ozono - Frontiers in Endocrinology, 2019 - frontiersin.org
Phosphate is essential for skeletal mineralization, and its chronic deficiency leads to rickets
and osteomalacia. Skeletal mineralization starts in matrix vesicles (MVs) derived from the …

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers

G Nicolas, C Charbonnier, RR de Lemos… - American Journal of …, 2015 - Wiley Online Library
Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular
calcifying disorder with diverse neuropsychiatric expression. Three causative genes have …

Wilson disease and other neurodegenerations with metal accumulations

P Dusek, T Litwin, A Czlonkowska - Neurologic clinics, 2015 - neurologic.theclinics.com
Trace elements, such as iron, copper, manganese, and calcium, which are essential
constituents necessary for cellular homeostasis, become toxic when present in excess …

Primary brain calcification: an international study reporting novel variants and associated phenotypes

EM Ramos, M Carecchio, R Lemos, J Ferreira… - European Journal of …, 2018 - nature.com
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying
disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is …

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification

RR Lemos, EM Ramos, A Legati, G Nicolas… - Human …, 2015 - Wiley Online Library
Primary familial brain calcification (PFBC) is a heterogeneous neuropsychiatric disorder,
with affected individuals presenting a wide variety of motor and cognitive impairments, such …

SLC20A2 deficiency in mice leads to elevated phosphate levels in cerbrospinal fluid and glymphatic pathway‐associated arteriolar calcification, and recapitulates …

MC Wallingford, JJ Chia, EM Leaf, S Borgeia… - Brain …, 2017 - Wiley Online Library
Idiopathic basal ganglia calcification is a brain calcification disorder that has been
genetically linked to autosomal dominant mutations in the sodium‐dependent phosphate co …

Drug-induced movement disorders

SH Mehta, JC Morgan, KD Sethi - Neurol Clin, 2015 - cambridge.org
Antipsychotic agents, also termed neuroleptics or dopamine-receptor blocking agents
(DBAs), are extensively utilized in the management of psychiatric disorders such as …